Angiokeratoma: decision-making aid for the diagnosis ofFabry disease

Maria Rita Bongiorno, Aspite, Zampetti, Gnarra, Feliciani, Orteu, Antuzzi, Parini, Morrone, Cardinali, Kovacs, Linder, Manco

Risultato della ricerca: Book/Film/Article reviewpeer review

35 Citazioni (Scopus)


Isolated angiokeratomas are common benign cutaneous lesions, generally deemedunworthy of further investigation. In contrast, diffuse angiokeratomas shouldalert the physician to a possible diagnosis of Fabry disease, a rare X-linkedlysosomal storage disorder, characterized by a-galactosidase deficiency. Glycosphingolipidsaccumulate in cells throughout the body resulting in progressivemulti-organ failure. Difficulties are encountered when trying to interpret thesignificance of angiokeratomas because they may also occur in other lysosomalstorage disorders and rarely in an isolated manner in Fabry disease. We presentan algorithm for the classification of angiokeratomas which might prove usefulfor the diagnosis and management of Fabry disease. Assessment of the clinicalfeatures and location of the lesions, personal and family history, skin biopsy, dermoscopyand electron microscopy imaging are sequential steps in the diagnosticprocess. Assessing the deficiency of a-galactosidase enzyme activity is essential toconfirm the diagnosis in males, while mutation analysis is always needed infemales. Potentially this algorithm can change the current approach to patientswhen Fabry disease is suspected, thus improving the diagnostic strategy andmanagement of this disorder. It remains to be decided whether the use of analgorithm might reduce the number of genetic consultations. As evidence hasshown the efficacy of enzyme replacement therapy in halting progression of thedisease before the onset of irreversible organ damage, it is advisable to aim at anearly diagnosis in order to achieve timely initiation of effective treatment withbenefits for patients and appropriate use of medical resources.
Lingua originaleEnglish
pagine (da-a)712-720
Numero di pagine9
RivistaBritish Journal of Dermatology
Stato di pubblicazionePublished - 2012

All Science Journal Classification (ASJC) codes

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